Hs01886022_cn

• Gene Symbol: GIT1
• Assay Reference Genome Location: Chr.17:29574587 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 28964
• Gene Name: GIT ArfGAP 1
• Gene Aliases: -
• Location: Chr.17:29573469-29589592 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GIT1	NM_001085454.1	21	2642	NP_001078923.1
	NM_014030.3	20	2615	NP_054749.2
	XM_011524684.1	21	2504	XP_011522986.1
	XM_011524685.1	20	2477	XP_011522987.1
	AB209537.1			BAD92774.1
	AF124490.1	20	2415	AAD28046.1
	AK000863.1	4	642
	AK024826.1	15	1767
	AK294785.1	22	2520
	AK297443.1	18	2084
	AK299615.1
	AK299932.1	21	2417
	BC005031.1	1	77	AAH05031.1
	BC006227.2	4	649	AAH06227.2
	BC032098.1	3	566	AAH32098.1
	BC048196.1	5	717	AAH48196.1
	BX537553.1	12	2350	CAD97779.1
	BX537554.1	12	2350	CAD97780.1
	BX648097.1	12	2352

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv521557	Chr.17:29562968 - 29595257 on Build GRCh38	Loss	ABHD15 ANKRD13B TP53I13 GIT1
nsv833409	Chr.17:29465646 - 29655807 on Build GRCh38	Gain	ABHD15 CORO6 ANKRD13B TP53I13 SSH2 GIT1 TAOK1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of G-protein coupled receptor protein signaling pathway
regulation of cytokinesis
positive regulation of GTPase activity
ephrin receptor signaling pathway

Function(s)

GTPase activator activity
protein binding
protein complex binding
metal ion binding